ADGENTHE-CDA
Financiado
Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemi...
The emergence of next-generation sequencing technology (NGS) has revolutionized the diagnosis of genetic diseases including hereditary haematological diseases (HHD) providing a fast and accurate diagnosis, which ultimately leads t...
The emergence of next-generation sequencing technology (NGS) has revolutionized the diagnosis of genetic diseases including hereditary haematological diseases (HHD) providing a fast and accurate diagnosis, which ultimately leads to health improvement in these patients, as effective treatments are earlier provided, avoiding unwanted and detrimental aspects such as iron toxicity. Gene therapy is starting to be successfully applied in HHD. BloodGenetics (BG) S.L. has previously identified new mutations and new causative genes of HHD and nowadays is commercializing NGS-panels for a number of HHD. This proposal will focus in a particular HHD, the Congenital dyserithropoietic anemias (CDA), a bone marrow failure condition characterized by congenital anemia with ineffective erythropoiesis. The general aim of this proposal is to advance in the establishment of state-of-the-art tools for the diagnosis and treatment of CDA. Specifically, we aim to: 1) stablish a new panel including novel identified genes for and improvemnent in CDA diagnosis, 2) develop new engineered cellular models using CRISPR/CAS9 system for CDA modelling and 3) develop gene therapy tools applied to type II CDA in collaboration with International University of Catalunya (UIC) and Center for Energy, Environmental and Technological Research (CIEMAT). We strongly believe that this project will result in the achieving of a faster and more accurate diagnosis of CDA and to advance in the establishment of molecular tools for CDA gene therapy, which overall will dramatically improve patients’ quality of life.
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Duración del proyecto: 35 meses
Fecha Inicio: 2020-03-16
Fecha Fin: 2023-03-15
Fecha Fin: 2023-03-15
Línea de financiación: concedida
El organismo H2020 notifico la concesión del proyecto el día 2023-03-15
Línea de financiación objetivo
El proyecto se financió a través de la siguiente ayuda:
MSCA-IF-2019:
Individual Fellowships
Cerrada
hace 5 años
Presupuesto
El presupuesto total del proyecto asciende a
173K€
Líder del proyecto
BLOODGENETICS
Actividades de medicina especializada. actuara como una sociedad de medios. cnae 8622: actividades de medicina especializada
Perfil tecnológico
TRL
4-5
50K
Perfil tecnológico
TRL
4-5
50K